Amino acid change | Nucleotide change | Family | Number of affected/healthy family members |
---|---|---|---|
p.Cys522Arg | c.1564 T > C | 338 | 5/2 |
p.Gly1999Ser | c.5995G > A | 301 | 3/2 |
p.Asn2044Asp | c.6130A > G | 315 | 6/4 |
p.Cys2495Tyr | c.7484G > A | 112 | 3/3 |
p.Leu2619Arg | c.7856 T > G | 357 | 2/3 |
p.Glu2771Lys | c.8311G > A | 336 | 2/1 |
389 | 6/5 | ||
p.Gly3651Ser | c.10951G > A | 330 | 2/3 |
p.Arg3750Gly | c.11248C > G | 419 | 2/2 |
p.Glu3660_Ala3661delinsAsp | c.10980_10982delAGC | 297 | 2/4 |
p.Leu3998_Leu3999insPheLeuLeu | c.11993_11994dup9 | 161 | 3/3 |
p.Lys4147del | c.12439_12441delAAG | 454 | 3/2 |